Hirschsprung’s Disease

It is the congenital absence of or arrested development of parasympathetic ganglion cells in the intestinal wall, usually in the distal colon.

Symptoms are related to chronic intestinal obstruction and usually appear shortly after birth but may not be recognized until later in childhood or (rarely) in adulthood.

The lack of colorectal innervation inhibits peristalsis, and the affected portion of intestine becomes spastic and contracted. The internal rectal sphincter fails to relax, which prevents evacuation of fecal material and gas and causes severe abdominal distention and constipation.

The most common site affected is the rectosigmoid colon (short segment disease), and the less common is the upper descending colon and possibly the transverse colon are affected (long segment disease).

Rectal examination demonstrate absence of fecal material in the long segment disease; in short segment disease, rectal impaction may be present and, when the finger is removed, it may cause a rush of stool as the obstruction is temporary relieved.

X-rays shows severe gaseous distention of the bowel, with absence of gas in the rectum.

Radiopaque markers, when ingested, measure intestinal transit time. Children with short segment disease retain the markers in the rectum for long periods.